-
1
-
-
0023761525
-
Terminal deletion of the short arm of chromosome 5
-
Baccichetti C, Lenzini E, Artifoni L, Caufin D, Marangoni P. 1988. Terminal deletion of the short arm of chromosome 5. Clin Genet 34:219-223.
-
(1988)
Clin Genet
, vol.34
, pp. 219-223
-
-
Baccichetti, C.1
Lenzini, E.2
Artifoni, L.3
Caufin, D.4
Marangoni, P.5
-
2
-
-
0023103270
-
A case report of a de novo tandem duplication (5p)(p14-pter)
-
Chia NL, Bousfield LR, Johnson BH. 1987. A case report of a de novo tandem duplication (5p)(p14-pter). Clin Genet 31:65-69.
-
(1987)
Clin Genet
, vol.31
, pp. 65-69
-
-
Chia, N.L.1
Bousfield, L.R.2
Johnson, B.H.3
-
3
-
-
0028947055
-
Molecular definition of deletions of different segments of distal 5p that result in distinct phenotypic features
-
Church DM, Bengtsson U, Nielsen KV, Wasmuth JJ, Niebuhr E. 1995. Molecular definition of deletions of different segments of distal 5p that result in distinct phenotypic features. Am J Hum Genet 56:1162-1172.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1162-1172
-
-
Church, D.M.1
Bengtsson, U.2
Nielsen, K.V.3
Wasmuth, J.J.4
Niebuhr, E.5
-
4
-
-
0030884218
-
A high-resolution physical and transcript map of the cri du chat region of human chromosome 5p
-
Church DM, Yang J, Bocian M, Shiang R, Wasmuth JJ. 1997. A high-resolution physical and transcript map of the cri du chat region of human chromosome 5p. Genome Res 7:787-801.
-
(1997)
Genome Res
, vol.7
, pp. 787-801
-
-
Church, D.M.1
Yang, J.2
Bocian, M.3
Shiang, R.4
Wasmuth, J.J.5
-
5
-
-
0029028370
-
Evidence for a distinct region causing a catlike cry in patients with 5p deletions
-
Gersh M, Goodart SA, Pasztor LM, Harris DJ, Weiss L, Overhauser J. 1995. Evidence for a distinct region causing a catlike cry in patients with 5p deletions. Am J Hum Genet 56:1404-1410.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1404-1410
-
-
Gersh, M.1
Goodart, S.A.2
Pasztor, L.M.3
Harris, D.J.4
Weiss, L.5
Overhauser, J.6
-
6
-
-
0028063348
-
A yeast artificial chromosome contig of the critical region for cri-du-chat syndrome
-
Goodart SA, Simmons A, Grady A, Rojas, K, Moyzis R, Lovett M, Overhauser J. 1994. A yeast artificial chromosome contig of the critical region for cri-du-chat syndrome. Genomics 24:63-68.
-
(1994)
Genomics
, vol.24
, pp. 63-68
-
-
Goodart, S.A.1
Simmons, A.2
Grady, A.3
Rojas, K.4
Moyzis, R.5
Lovett, M.6
Overhauser, J.7
-
7
-
-
0023221034
-
Trisomy of the short arm of chromosome 5: Autopsy data in a malformed newborn with invdup(5)(p13.1-p15.3)
-
Kleczkowska A, Fryns JP, Moerman P, Vandenberghe K, Vandenberghe H. 1987. Trisomy of the short arm of chromosome 5: autopsy data in a malformed newborn with invdup(5)(p13.1-p15.3). Clin Genet 32:49-56.
-
(1987)
Clin Genet
, vol.32
, pp. 49-56
-
-
Kleczkowska, A.1
Fryns, J.P.2
Moerman, P.3
Vandenberghe, K.4
Vandenberghe, H.5
-
8
-
-
75949134950
-
Ségrégation familiale d'une translocation 5-13 déterminant une monosomie et une trisomie partielles du bras court du chromosome 5: Maladie de cri du chat et sa réciproque
-
Lejeune J, Larourcade J, Berger R, Turpin, R. 1964. Ségrégation familiale d'une translocation 5-13 déterminant une monosomie et une trisomie partielles du bras court du chromosome 5: maladie de cri du chat et sa réciproque. CR Acad Sci (III) 258:5767-5770.
-
(1964)
CR Acad Sci (III)
, vol.258
, pp. 5767-5770
-
-
Lejeune, J.1
Larourcade, J.2
Berger, R.3
Turpin, R.4
-
9
-
-
78651114072
-
Trois cas de deletion partielle du bras court d'un chromosome 5
-
Lejeune J, Lafourcade J, Berger R, Vialette J, Boeswillwald M, Seringe P, Turpin R. 1963. Trois cas de deletion partielle du bras court d'un chromosome 5. CR Acad Sci 257:3098.
-
(1963)
CR Acad Sci
, vol.257
, pp. 3098
-
-
Lejeune, J.1
Lafourcade, J.2
Berger, R.3
Vialette, J.4
Boeswillwald, M.5
Seringe, P.6
Turpin, R.7
-
10
-
-
0031033840
-
Proximal partial 5p trisomy resulting from a maternal (19:5) insertion
-
Lorda-Sanchez I, Urioste M, Villa A, del Carmen Carrascosa M, Vazquez MS, Martinez A, Martinez-Frias ML. 1997. Proximal partial 5p trisomy resulting from a maternal (19:5) insertion. Am J Med Genet 68:476-480.
-
(1997)
Am J Med Genet
, vol.68
, pp. 476-480
-
-
Lorda-Sanchez, I.1
Urioste, M.2
Villa, A.3
Del Carmen Carrascosa, M.4
Vazquez, M.S.5
Martinez, A.6
Martinez-Frias, M.L.7
-
11
-
-
0029646982
-
Phenotypic mapping and clinical ideology
-
Lurie IW, Opitz JM. 1995. Phenotypic mapping and clinical ideology. Am J Med Genet 57:587.
-
(1995)
Am J Med Genet
, vol.57
, pp. 587
-
-
Lurie, I.W.1
Opitz, J.M.2
-
12
-
-
0017898839
-
Cytologic observations in 35 individuals with a 5p-karyotype
-
Niebuhr E. 1978a. Cytologic observations in 35 individuals with a 5p-karyotype. Hum Genet 42: 143-156.
-
(1978)
Hum Genet
, vol.42
, pp. 143-156
-
-
Niebuhr, E.1
-
13
-
-
0018137411
-
The cri-du-chat syndrome: Epidemiology, cytogenetics, and clinical features
-
Niebuhr E. 1978b. The cri-du-chat syndrome: Epidemiology, cytogenetics, and clinical features. Hum Genet 44:227-275.
-
(1978)
Hum Genet
, vol.44
, pp. 227-275
-
-
Niebuhr, E.1
-
15
-
-
0028054658
-
Molecular and phenotypic mapping of the short arm of chromosome 5: Sublocalization of the critical region for the cri-du-chat syndrome
-
Overhauser J, Huang X, Gersh M, Wilson W, McMahon J, Bengsston U, Rojas K, Meyer M, Wasmuth JJ. 1994. Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome. Hum Mol Genet 3:247-252.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 247-252
-
-
Overhauser, J.1
Huang, X.2
Gersh, M.3
Wilson, W.4
McMahon, J.5
Bengsston, U.6
Rojas, K.7
Meyer, M.8
Wasmuth, J.J.9
-
16
-
-
0032567668
-
Molecular cloning of human semaphorin F: A candidate gene for the brain abnormalities in the rri-du-chat syndrome
-
Simmons AD, Puschel AW, McPherson, JD, Overhauser J, Lovett M. 1998. Molecular cloning of human semaphorin F: a candidate gene for the brain abnormalities in the rri-du-chat syndrome. Biochem Biophys Res Comm 242:685-691.
-
(1998)
Biochem Biophys Res Comm
, vol.242
, pp. 685-691
-
-
Simmons, A.D.1
Puschel, A.W.2
McPherson, J.D.3
Overhauser, J.4
Lovett, M.5
-
17
-
-
0025295096
-
Two cases of cri-du-chat syndrome with mild phenotype but with different size of 5p deletion
-
Smith A, Field B, Murphy R, Nelson J. 1990. Two cases of cri-du-chat syndrome with mild phenotype but with different size of 5p deletion. J Paediatr Child Health 26:152-154.
-
(1990)
J Paediatr Child Health
, vol.26
, pp. 152-154
-
-
Smith, A.1
Field, B.2
Murphy, R.3
Nelson, J.4
-
18
-
-
0023734798
-
Duplication of a small segment of 5p due to maternal recombination within a paracentric shift
-
Webb GC, Voullaire LE, Rogers JG. 1998. Duplication of a small segment of 5p due to maternal recombination within a paracentric shift. Am J Med Genet 30:875-881.
-
(1998)
Am J Med Genet
, vol.30
, pp. 875-881
-
-
Webb, G.C.1
Voullaire, L.E.2
Rogers, J.G.3
-
19
-
-
0020633044
-
Clinical heterogeneity in 80 home-reared children with cri-du-chat syndrome
-
Wilkins LE, Brown JA, Nance WE, Wold B. 1983. Clinical heterogeneity in 80 home-reared children with cri-du-chat syndrome. J Pediatr 102: 528-533.
-
(1983)
J Pediatr
, vol.102
, pp. 528-533
-
-
Wilkins, L.E.1
Brown, J.A.2
Nance, W.E.3
Wold, B.4
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